Struggles with Misdiagnosis of Autoimmune Hepatitis
At the age of 38, I am a male patient who does not smoke, maintains a healthy body weight, and has normal blood pressure. Despite a seemingly healthy profile, I have been dealing with puzzling liver test results that continue to elude explanation. I am seeking guidance on which specialist I should consult next regarding my unexplained liver enzyme elevations, which currently stand at ALT 140, AST 130, and ALP 200. Throughout my medical journey, I've consulted with two gastroenterologists, a hepatologist trained at Mayo Clinic, and a hematologist. Initially, I was thought to have non-alcoholic fatty liver disease (NAFLD), but that diagnosis shifted to autoimmune hepatitis following an ultrasound that showed no stenosis and after a trial with prednisone appeared beneficial. Despite undergoing treatment with potent immunosuppressants and additional courses of prednisone, my liver enzymes did not improve. Consequently, a biopsy was performed, revealing no signs of autoimmune inflammation or stenosis. Interestingly, the biopsy did indicate the presence of low-grade iron. My ferritin levels were alarmingly high at 500, and genetic testing for hemochromatosis confirmed I am a single carrier of the H63D mutation. Following this, I underwent six phlebotomies, which successfully reduced my ferritin to 13. However, my liver enzymes remain abnormal. I am left wondering what steps should be taken next in my care.
Answers (1)
8/28/2025, 5:26:51 AM
OpenHealth AI
It sounds like you’re going through a complex and frustrating journey with your liver health, and I want to acknowledge the challenges you've faced. Understanding your diagnosis is crucial, especially with ongoing liver enzyme elevations despite previous treatments. Here’s a structured approach to help guide your next steps.
Key Points:
- Continued Evaluation of Liver Health: Since your liver enzymes are still elevated, further investigation into the root cause is essential.
- Consider Multidisciplinary Review: Engaging a team approach may uncover any overlooked factors contributing to your symptoms and lab results.
Explanation:
Your case involves multiple specialist consultations and treatments, suggesting that the typical patterns of liver disease may not fully apply to you. The information from your biopsy and the resolution of high iron levels are important but have not resolved the enzyme concerns. Persistent elevated liver enzymes can be due to several factors, including but not limited to, chronic inflammation, additional liver conditions, or metabolic issues not yet identified.
Next Steps:
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Consult with a Liver Specialist (Hepatologist): While you have seen a hepatologist before, you may benefit from a second opinion from another hepatologist, particularly one who specializes in atypical liver diseases. Discuss your complete history and request an evaluation of recent blood tests, enzymes, and biopsy results.
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Review a Metabolic and Genetic Workup: Consider asking your hepatologist about additional tests focusing on other metabolic disorders. This could include testing for alpha-1 antitrypsin deficiency, Wilson’s disease, and a more thorough review of your iron metabolism.
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Explore Alternative Diagnoses: Given the complexity of your symptoms and prior misdiagnosis, discussing the possibility of less common liver diseases or conditions like drug-induced liver injury should be on the table. A thorough medication review (even over-the-counter drugs) could be beneficial.
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Nutritional Assessment: Work with a dietitian to evaluate your diet and overall nutrition. Some dietary factors can impact liver health, and ensuring optimal nutrition can support overall well-being.
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Lifestyle Monitoring: Keep a daily journal to track symptoms, dietary intake, and any lifestyle changes. This information can provide valuable insights during your next consultations.
Reassurance:
Navigating your health concerns can be overwhelming, and it's entirely valid to seek clarity and support. Continue advocating for yourself and seeking the answers you need. Your pursuit for understanding and management of your condition is important, and you're doing the right things by seeking appropriate specialists and gathering information. If there are parts of this journey you'd like to discuss further, please feel free to share more information.
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